Associated Papers
PURA-related neurodevelopmental disorders: a systematic review on genotype-phenotype correlations.
Taniguchi N et al.
Journal of Medical Genetics, 2025
Early-onset bradykinetic rigid syndrome and reflex seizures in a child with PURA syndrome.
Solazzi R et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2021
Novel frameshift mutation in PURA gene causes severe encephalopathy of unclear cause.
Spangenberg L et al.
Molecular Genetics & Genomic Medicine, 2021
Exome sequencing in paediatric patients with movement disorders.
Kwong AK et al.
Orphanet Journal of Rare Diseases, 2021
Expanding the PURA syndrome phenotype: A child with the recurrent PURA p.(Phe233del) pathogenic variant showing similarities with cutis laxa.
Cinquina V et al.
Molecular Genetics & Genomic Medicine, 2021
Neonatal PURA syndrome: a case report and literature review.
Liu Y et al.
Translational Pediatrics, 2021
PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.
Reijnders MRF et al.
Journal of Medical Genetics, 2018
29097605 (PubMed )
Supplement: jmedgenet-2017-104946supp001.pdf
De novo mutations in PURA are associated with hypotonia and developmental delay.
Tanaka AJ et al.
Cold Spring Harbor Molecular Case Studies, 2015
Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome.
Lalani SR et al.
American Journal of Human Genetics, 2014
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